Congenital adrenal hyperplasia

Common Name(s)

Congenital adrenal hyperplasia, Adrenogenital syndrome

Adrenogenital syndrome, also called congenital adrenal hyperplasia (CAH), is a group of genetic disorders. These conditions cause various abnormalities in the adrenal glands and a person’s hormones, which are a chemical produced in the adrenal glands and used to send signals throughout the body. In these conditions, some hormones are unable to be produced and some are also overproduced. This can result in high blood pressure and electrolyte abnormalities in infants born with this condition. It can also cause abnormal genitalia development in both males and females. Patients are usually diagnosed with these conditions at birth or when delayed puberty is apparent. These conditions can be controlled using steroid replacements, although underdevelopment of male genitalia is often permanent and requires specialist involvement.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital adrenal hyperplasia" for support, advocacy or research.

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National Adrenal Diseases Foundation (NADF)

The National Adrenal Diseases Foundation informs, educates, and supports those with adrenal disease and their families to improve their quality of life.

Last Updated: 13 Oct 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital adrenal hyperplasia" for support, advocacy or research.

Logo
National Adrenal Diseases Foundation (NADF)

The National Adrenal Diseases Foundation informs, educates, and supports those with adrenal disease and their families to improve their quality of life.

http://www.nadf.us

Last Updated: 13 Oct 2014

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Congenital adrenal hyperplasia" returned 347 free, full-text research articles on human participants. First 3 results:

A Klinefelter boy with congenital adrenal hyperplasia: too much or too little androgens?
 

Author(s): Giada Zanella, Gianluca Tornese, Elisabetta Mascheroni, Elena Faleschini, Alessandro Ventura, Egidio Barbi

Journal:

 

The simultaneous occurrence of Klinefelter Syndrome (KS) and Congenital Adrenal Hyperplasia (CAH) is an exceptional event: there are just three case reports (two children and a 51 years old man) describing males affected by both KS and 21OHD (21-hydroxylase deficiency) CAH, the first ...

Last Updated: 31 Dec 1969

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Health-related quality of life in children with congenital adrenal hyperplasia.
 

Author(s): Alyssa Halper, Mary C Hooke, Maria Teresa Gonzalez-Bolanos, Nancy Vanderburg, Thang N Tran, Jane Torkelson, Kyriakie Sarafoglou

Journal:

 

Children with congenital adrenal hyperplasia (CAH) require life-long glucocorticoid replacement and have daily intermittent hyper/hypocortisolemia and hyperandrogenemia. Health-related quality of life (HRQL) is important for understanding the impact the disease and therapy have on ...

Last Updated: 31 Dec 1969

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Congenital adrenal hyperplasia as a cause of adrenal incidentaloma.
 

Author(s): E Buitenwerf, T P Links, I P Kema, M L Haadsma, M N Kerstens

Journal: Neth J Med. 2017 Sep;75(7):298-300.

 

Congenital adrenal hyperplasia (CAH) can present as a benign adrenal tumour, which should be treated medically. The diagnosis of CAH must be considered in a patient presenting with adrenal incidentaloma in order to avoid unnecessary adrenalectomy. Urinary steroid profiling is a useful ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Congenital adrenal hyperplasia" returned 36 free, full-text review articles on human participants. First 3 results:

Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods.
 

Author(s): Rafał Podgórski, David Aebisher, Monika Stompor, Dominika Podgórska, Artur Mazur

Journal: Acta Biochim. Pol.. 2018 ;65(1):25-33.

 

The aim of this paper is a straightforward presentation of the steroidogenesis process and the most common type of congenital adrenal hyperplasia (CAH) - 21-hydroxylase deficiency - as well as the analytical diagnostic methods that are used to recognize this disease. CAH is a family ...

Last Updated: 31 Dec 1969

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The Many Faces of Non-Classic Congenital Adrenal Hyperplasia.
 

Author(s): Irit Ayalon-Dangur, Anat Segev-Becker, Itay Ayalon, Ori Eyal, Shoshana Israel, Naomi Weintrob

Journal: Isr. Med. Assoc. J.. 2017 May;19(5):317-322.

 

Last Updated: 31 Dec 1969

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Congenital Adrenal Hyperplasia.
 

Author(s): Selma Feldman Witchel

Journal: J Pediatr Adolesc Gynecol. 2017 Oct;30(5):520-534.

 

The congenital adrenal hyperplasias comprise a family of autosomal recessive disorders that disrupt adrenal steroidogenesis. The most common form is due to 21-hydroxylase deficiency associated with mutations in the 21-hydroxylase gene, which is located at chromosome 6p21. The clinical ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Adult Height Prediction in Congenital Adrenal Hyperplasia
 

Status: Recruiting

Condition Summary: Congenital Adrenal Hyperplasia

 

Last Updated: 19 May 2017

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Study of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia
 

Status: Recruiting

Condition Summary: Congenital Adrenal Hyperplasia; CAH - Congenital Adrenal Hyperplasia

 

Last Updated: 10 Sep 2018

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Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-74788 in Adults With Congenital Adrenal Hyperplasia
 

Status: Recruiting

Condition Summary: CAH - Congenital Adrenal Hyperplasia

 

Last Updated: 4 Oct 2018

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